4.4 Flashcards

1
Q

What are the 5 goals of genetic counselling?

A

(1) comprehend medical facts (2) appreciate hereditary (3)understand alternatives (4)course of action (5)adjust

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2
Q

What are the 4 models of genetic counselling?

A

Eugenic model, medical/preventative model, decision-making model, psychotherapy model

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3
Q

Ethical issues of carrier IDing?

A

stigmatization of ethnic populations, decreased options to care for those IDed as carriers, respect beliefs

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4
Q

What was the eugenic model?

A

social control that improves/impairs racial qualities of future generations physically or mentally. Forced sterilization if socially inadequate.

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5
Q

What was the medical/preventative model?

A

By shelton reed; non-directive approach that introduced genetic counseling. promotes autonomy but only info to offer.

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6
Q

What was the decision making model?

A

discovery of trisomys and genetics gave new options to better assess their risks and avoid a genetic disorder. more interactive process

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7
Q

What was the psychotherapy model?

A

deals with the powerful emotions that genetic information can provoke.

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8
Q

Define carrier ID

A

individuals dont have dz but risk of child with dz

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9
Q

Define carrier testing

A

individuals with risk bc of family hx

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10
Q

Define carrier screening

A

testing individuals w/o family hx

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11
Q

When is noninvasive prenatal screening (NIPS) recommended?

A

> or=35yo (maternal age), ultrasound showed incr risk of aneuploidy, another test showed incr risk of aneuploidy, parents w/ previous child w/ Down’s, parents w/ balanced translocation.

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12
Q

Limits of NIPS

A

$$, false positive, bc from placentra may not represent true genome (mosaic)

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13
Q

Ethical issues of NIPS

A

parents feel “SHOULD” do it; incr terminations, pregnancy tentative pending testing

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14
Q

Define genetic libertarians

A

right to full and complete accounting of all possible risks

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15
Q

define genetic empiricists

A

believe theres insuff evidence of penetrance to warrant sharing of finding and increases psych burden in parents

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16
Q

What did the ACMG recommend in 2014?

A

Opt out option from report of ALL clinical mutations regardless of age